Variant report

Variant	esv1845746
Chromosome Location	chr13:63599984-63669737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:63619880..63624018-chr17:21665172..21668893,6	K562	blood:
2	chr13:63647812..63648534-chr20:26148535..26149113,2	MCF-7	breast:
3	chr13:63663754..63665958-chr13:63668093..63670026,2	K562	blood:
4	chr13:63663754..63665958-chr13:63668093..63670026,2	K562	blood:
5	chr13:63647686..63648379-chr3:64675736..64676331,2	MCF-7	breast:
6	chr13:63637281..63639152-chr20:26145559..26147940,2	K562	blood:
7	chr13:63620345..63622864-chr17:21666900..21668712,2	K562	blood:
8	chr13:63637188..63639152-chr20:26145559..26148373,3	K562	blood:
9	chr13:63647679..63650483-chr20:26148365..26151073,2	K562	blood:
10	chr13:63619768..63621405-chr17:21665172..21666856,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-3	chr13:63609109-63609165	XLOC_010410
2	lnc-AL445989.1-3	chr13:63609108-63609165	NONHSAT034157

No data

Variant related genes	Relation type
DNMT1	miRNA target sites

Extended variants
information (count: 2463 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2463 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115815269	chr13:63599995-63599996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373806392	chr13:63599996-63599997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558798454	chr13:63599997-63599998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570641997	chr13:63600052-63600053	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs539162112	chr13:63600074-63600075	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557423630	chr13:63600077-63600078	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10161561	chr13:63600137-63600138	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536657492	chr13:63600166-63600167	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs554620798	chr13:63600203-63600204	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559793488	chr13:63600237-63600238	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573503296	chr13:63600238-63600239	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs71211332	chr13:63600255-63600256	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs35066326	chr13:63600264-63600265	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs397935414	chr13:63600269-63600270	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373671673	chr13:63600328-63600329	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116207110	chr13:63600340-63600341	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559733413	chr13:63600358-63600359	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149136230	chr13:63600368-63600369	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs369696358	chr13:63600378-63600379	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs34502189	chr13:63600393-63600394	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181043936	chr13:63600427-63600428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185059608	chr13:63600440-63600441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566523392	chr13:63600444-63600445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73501571	chr13:63600484-63600485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116954881	chr13:63600490-63600491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373223026	chr13:63600541-63600542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548437426	chr13:63600557-63600558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570704222	chr13:63600567-63600568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538028629	chr13:63600580-63600581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549667968	chr13:63600592-63600593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73501573	chr13:63600619-63600620	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs369935952	chr13:63600657-63600658	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs151248978	chr13:63600661-63600662	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs17090499	chr13:63600668-63600669	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141085457	chr13:63600684-63600685	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534254462	chr13:63600687-63600688	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558814482	chr13:63600718-63600719	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577068491	chr13:63600719-63600720	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144901597	chr13:63600836-63600837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188646058	chr13:63600838-63600839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574487704	chr13:63600916-63600917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138659449	chr13:63600985-63600986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74086603	chr13:63609120-63609121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs543267853	chr13:63609121-63609122	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs74086604	chr13:63609125-63609126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs181880000	chr13:63609126-63609127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs568741678	chr13:63609137-63609138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs548261381	chr13:63609141-63609142	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs185397716	chr13:63609149-63609150	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs527672842	chr13:63609151-63609152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63597800-63600400	Weak transcription	Brain Anterior Caudate	brain
2	chr13:63598800-63601000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:63599000-63600000	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:63599600-63600800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:63600000-63600400	Active TSS	Brain Hippocampus Middle	brain
6	chr13:63600000-63600800	Enhancers	Brain Cingulate Gyrus	brain
7	chr13:63600400-63600600	Enhancers	Brain Anterior Caudate	brain
8	chr13:63600400-63600800	Enhancers	Brain Hippocampus Middle	brain
9	chr13:63600600-63600800	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr13:63600600-63600800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr13:63600600-63600800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:63600600-63600800	Enhancers	Brain Substantia Nigra	brain
13	chr13:63615800-63616000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:63616000-63617200	Enhancers	Fetal Lung	lung
15	chr13:63616000-63619000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:63616600-63616800	Weak transcription	Psoas Muscle	Psoas
17	chr13:63617000-63617200	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr13:63617200-63618800	Weak transcription	Fetal Lung	lung
19	chr13:63617200-63619800	Weak transcription	Psoas Muscle	Psoas
20	chr13:63618600-63619000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:63618600-63619000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:63618600-63619000	Enhancers	Colon Smooth Muscle	Colon
23	chr13:63618800-63619000	Active TSS	Lung	lung
24	chr13:63618800-63619200	Enhancers	Fetal Lung	lung
25	chr13:63618800-63619200	Enhancers	Pancreas	Pancrea
26	chr13:63618800-63619200	Enhancers	Stomach Smooth Muscle	stomach
27	chr13:63619000-63619200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:63619000-63619200	Flanking Active TSS	Lung	lung
29	chr13:63619200-63619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:63619600-63620400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:63621200-63622000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:63621200-63627400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr13:63621400-63621600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr13:63621400-63621800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr13:63621400-63622200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr13:63621400-63622400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr13:63621400-63622400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:63621600-63621800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr13:63621600-63622200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:63621600-63622200	Enhancers	K562	blood
41	chr13:63621600-63622200	ZNF genes & repeats	NHDF-Ad	bronchial
42	chr13:63621800-63622000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:63621800-63622200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr13:63622000-63622400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr13:63622200-63622400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr13:63622200-63624800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:63622200-63625400	Weak transcription	K562	blood
48	chr13:63622400-63623800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr13:63624800-63625000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:63624800-63625000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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